Short stature due to primary acid-labile subunit deficiency

Orpha code: 140941OMIM code: 615961

Definicja

Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.

Disease data
Klasyfikacja

Disease

Kod ORPHA
140941
Kod OMIM
615961
Kod ICD10
E34.3
Kod ICD11
5A61.0

No additional description.

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